scholarly journals Urinary Neopterin and Phenylalanine Loading Test as Tools for the Biochemical Diagnosis of Segawa Disease

2012 ◽  
pp. 67-75 ◽  
Author(s):  
Vincenzo Leuzzi ◽  
Claudia Carducci ◽  
Flavia Chiarotti ◽  
Daniela D’Agnano ◽  
Maria Teresa Giannini ◽  
...  
Keyword(s):  
Loading Test ◽  
Biochemical Diagnosis ◽  
Phenylalanine Loading ◽  
Urinary Neopterin

Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test

1985 ◽  
Vol 153 (2) ◽  
pp. 137-142 ◽  
Author(s):  
Miriam G. Blitzer ◽  
Joan E. Bailey-Wilson ◽  
Emmanuel Shapira
Keyword(s):  
Loading Test ◽  
Phenylalanine Loading

Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency

2006 ◽  
Vol 39 (9) ◽  
pp. 893-897 ◽  
Author(s):  
Eduardo López-Laso ◽  
Aida Ormazabal ◽  
Rafael Camino ◽  
Francisco J. Gascón ◽  
Juan J. Ochoa ◽  
...  
Keyword(s):  
Guanosine Triphosphate ◽  
Loading Test ◽  
Phenylalanine Loading

Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis

1984 ◽  
Vol 142 (2) ◽  
pp. 126-129 ◽  
Author(s):  
F. G�ttler ◽  
H. Lou ◽  
C. Lykkelund ◽  
A. Niederwieser
Keyword(s):  
Loading Test ◽  
Phenylalanine Loading ◽  
Biopterin Synthesis

Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia

2013 ◽  
Vol 108 (3) ◽  
pp. 195-197 ◽  
Author(s):  
Thomas Opladen ◽  
Georg F. Hoffmann ◽  
Andrea A. Kühn ◽  
Nenad Blau
Keyword(s):  
Loading Test ◽  
Phenylalanine Loading

scholarly journals A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia

2007 ◽  
Vol 65 (4b) ◽  
pp. 1224-1227 ◽  
Author(s):  
Rosana H. Scola ◽  
Carla Carducci ◽  
Vanise G. Amaral ◽  
Paulo J. Lorenzoni ◽  
Helio A.G. Teive ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Loading Test ◽  
Hydroxylase Deficiency ◽  
Inherited Metabolic Disorder ◽  
Generalized Dystonia ◽  
Phenylalanine Loading ◽  
Mutation Pattern ◽  
Gch1 Gene ◽  
Tyrosine Hydroxylase Deficiency

Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. We report the case of a 10-years-old girl with progressive generalized dystonia and gait disorder who presented dramatic response to levodopa. The phenylalanine to tyrosine ratio was significantly higher after phenylalanine loading test. This condition had two different heterozygous mutations in the GCH1 gene: the previously reported P23L mutation and a new Q182E mutation. The characteristics of the DRD and the molecular genetic findings are discussed.

The phenylalanine loading test in the differential diagnosis of dystonia

Neurology ◽  
2003 ◽  
Vol 60 (4) ◽  
pp. 700-702 ◽  
Author(s):  
O. Bandmann ◽  
M. Goertz ◽  
J. Zschocke ◽  
G. Deuschl ◽  
W. Jost ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Early Diagnosis ◽  
Loading Test ◽  
Generalized Dystonia ◽  
Phenylalanine Loading ◽  
Great Relevance ◽  
Treatable Condition

Early diagnosis of dopa-responsive dystonia (DRD) and its delineation from other dystonic syndromes is of great relevance because DRD is an eminently treatable condition. The possible relevance of the phenylalanine loading test (Phe-L) in differentiating DRD from primary focal and generalized dystonia was investigated. A marked difference in the phenylalanine/tyrosine ratio between patients with DRD and patients with other types of dystonia was observed. This indicates that Phe-L may be helpful in the differential diagnosis of dystonias.

Seasonal variation of plasma free normetanephrine concentrations: implications for biochemical diagnosis of pheochromocytoma

2014 ◽  
Vol 122 (03) ◽  
Author(s):  
C Pamporaki ◽  
M Bursztyn ◽  
M Reimann ◽  
T Ziemssen ◽  
SR Bornstein ◽  
...  
Keyword(s):  
Seasonal Variation ◽  
Biochemical Diagnosis
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